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==Overview==
'''Acrodysostosis''' also known as '''Arkless-Graham syndrome''' or '''Maroteaux-Malamut syndrome''' is a rare congenital malformation '''syndrome''' which involves shortening of the knuckles of the legs and hands, mental deficiency in approximately 90% of affected children, and peculiar fecies. Other common abnormalities include short head (which is measured front to back i.e. [[brachycephaly]]), small broad upturned nose with flat nasal bridge, protruding jaw, Intrauterine growth retardation and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur. Most reported cases have been sporadic, but it has been suggested that the condition might be genetically related i.e. in a [[autosomal dominant]] mode of transmission. Both males and females are affected. The disorder has been associated with older parental age.


'''Acrodysostosis''' also known as '''Arkless-Graham syndrome''' or '''Maroteaux-Malamut syndrome''' is a rare congenital malformation '''syndrome''' which involves shortening of the knuckles of the legs and hands, mental deficiency in approximately 90% of affected children, and peculiar fecies. Other common abnormalities include short head (which is measured front to back i.e. [[brachycephaly]]), small broad upturned nose with flat nasal bridge, protruding jaw, Intrauterine growth retardation and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur. Most reported cases have been sporadic, but it has been suggested that the condition might be genetically related i.e. in a [[autosomal dominant]] mode of transmission. Both males and females are affected. The disorder has been associated with older parental age.
==Differentiating Acrodysostosis From Other Diseases==
<div style="width:85%;">
*Acrodysostosis be differentiated from other causes of abnormal [[parathyroid hormone]](PTH) and [[parathyroid hormone]] resistance like Blomstrand chondrodysplasia, [[acrodysostosis]], [[hypomagnesemia]], [[hypoparathyroidism]] and [[hyperparathyroidism]].<ref name="pmid23076042">{{cite journal |vauthors=Levine MA |title=An update on the clinical and molecular characteristics of pseudohypoparathyroidism |journal=Curr Opin Endocrinol Diabetes Obes |volume=19 |issue=6 |pages=443–51 |year=2012 |pmid=23076042 |pmc=3679535 |doi=10.1097/MED.0b013e32835a255c |url=}}</ref><ref name="pmid21816789">{{cite journal |vauthors=Mantovani G |title=Clinical review: Pseudohypoparathyroidism: diagnosis and treatment |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=10 |pages=3020–30 |year=2011 |pmid=21816789 |doi=10.1210/jc.2011-1048 |url=}}</ref><ref name="pmid25891861">{{cite journal |vauthors=Lee S, Mannstadt M, Guo J, Kim SM, Yi HS, Khatri A, Dean T, Okazaki M, Gardella TJ, Jüppner H |title=A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism |journal=J. Bone Miner. Res. |volume=30 |issue=10 |pages=1803–13 |year=2015 |pmid=25891861 |pmc=4580526 |doi=10.1002/jbmr.2532 |url=}}</ref><ref name="pmid227929">{{cite journal |vauthors=Freitag JJ, Martin KJ, Conrades MB, Bellorin-Font E, Teitelbaum S, Klahr S, Slatopolsky E |title=Evidence for skeletal resistance to parathyroid hormone in magnesium deficiency. Studies in isolated perfused bone |journal=J. Clin. Invest. |volume=64 |issue=5 |pages=1238–44 |year=1979 |pmid=227929 |pmc=371269 |doi=10.1172/JCI109578 |url=}}</ref>
{|
! colspan="8" style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Differential diagnosis of Pseudohypoparathyroidism}}
|-
| colspan="2" rowspan="2" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|'''Disorders'''}}
| rowspan="2" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|'''Mechanism'''}}
! colspan="4" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Laboratory findings}}
|-
| style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum PTH}}
| style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum Calcium}}
| style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum Phosphate}}
| style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Other findings}}
|-
! rowspan="5" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Pseudohypoparathyroidism]]''' <ref name="pmid23076042">{{cite journal |vauthors=Levine MA |title=An update on the clinical and molecular characteristics of pseudohypoparathyroidism |journal=Curr Opin Endocrinol Diabetes Obes |volume=19 |issue=6 |pages=443–51 |year=2012 |pmid=23076042 |pmc=3679535 |doi=10.1097/MED.0b013e32835a255c |url=}}</ref><ref name="pmid21816789">{{cite journal |vauthors=Mantovani G |title=Clinical review: Pseudohypoparathyroidism: diagnosis and treatment |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=10 |pages=3020–30 |year=2011 |pmid=21816789 |doi=10.1210/jc.2011-1048 |url=}}</ref><ref name="pmid25891861">{{cite journal |vauthors=Lee S, Mannstadt M, Guo J, Kim SM, Yi HS, Khatri A, Dean T, Okazaki M, Gardella TJ, Jüppner H |title=A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism |journal=J. Bone Miner. Res. |volume=30 |issue=10 |pages=1803–13 |year=2015 |pmid=25891861 |pmc=4580526 |doi=10.1002/jbmr.2532 |url=}}</ref>
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1a'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Genetic defect]] causing end [[Organ (biology)|organ]] resistance to the action of [[parathyroid hormone]] (PTH)
*[[Heterozygous]] ''[[GNAS1|GNAS]]'' inactivating [[mutations]] that reduce expression or function of Gα<sub>s</sub>
*[[Genetic mutation]] disrupts both receptor-mediated activation of [[adenylyl cyclase]] and receptor-independent activation of the enzyme.
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" |
* '''↓''' [[Vitamin D|1,25 Dihydroxy vitamin D]]
* '''↓''' [[CAMP|Urinary cAMP]]
* '''↓''' [[Phosphate|Urinary phosphate]]
|-
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1b'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Genetic defect]] causing end [[Organ (biology)|organ]] resistance to the action of [[parathyroid hormone]] (PTH).
*[[Familial]]- [[heterozygous]] deletions in ''[[STX16|STX]]16'', NESP55, and/or AS [[exons]] or loss of [[methylation]] at ''[[GNAS1|GNAS]]''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" |
* '''↓''' [[Vitamin D|1,25 Dihydroxy vitamin D]]
* '''↓''' [[CAMP|Urinary cAMP]]
* ↓ [[Phosphate|Urinary phosphate]]
|-
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1c'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
*[[Heterozygous]] ''[[GNAS1|GNAS]]'' inactivating [[mutations]] that reduce expression or function of Gα<sub>s</sub>
*[[Genetic mutation]] disrupts receptor-mediated activation of [[adenylyl cyclase]] but does not affect receptor-independent activation of the [[enzyme]].
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" |
* '''↓''' [[Vitamin D|1,25 Dihydroxy vitamin D]]
* '''↓''' [[CAMP|Urinary cAMP]]
* '''↓''' [[Phosphate|Urinary phosphate]]
|-
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 2'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" |
* '''↓''' [[Vitamin D|1,25 Dihydroxy vitamin D]]
* [[CAMP|Normal urinary cAMP]]
* '''↓''' [[Phosphate|Urinary phosphate]]
|-
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Pseudopseudohypoparathyroidism'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
*Combination of inactivating [[mutations]] of ''[[GNAS1]]'' and [[Albright's hereditary osteodystrophy|Albright's osteodystrophy]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal
| style="padding: 5px 5px; background: #F5F5F5;" | --
|-
! colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Hypoparathyroidism]]'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*There is deficiency of [[parathyroid hormone]] in [[hypoparathyroidism]].
*Deficiency of [[parathyroid hormone]] causes body to decrease:
**Reabsorption of [[calcium]] from [[bone]].
**Excretion of [[phosphate]].
**Reabsorbtion of [[calcium]] from [[distal tubules]].
**[[Vitamin D]] mediated [[absorption]] of [[calcium]] from [[intestine]].
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*'''↓''' [[Vitamin D|1,25 Dihydroxy vitamin D]]
*[[CAMP|Normal urinary cAMP]]
*[[Phosphate group|Normal urinary phosphate]]
|--
|-
! colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Hypomagnesemia]]'''<ref name="pmid26069819">{{cite journal |vauthors=Jahnen-Dechent W, Ketteler M |title=Magnesium basics |journal=Clin Kidney J |volume=5 |issue=Suppl 1 |pages=i3–i14 |year=2012 |pmid=26069819 |pmc=4455825 |doi=10.1093/ndtplus/sfr163 |url=}}</ref><ref name="pmid227929">{{cite journal |vauthors=Freitag JJ, Martin KJ, Conrades MB, Bellorin-Font E, Teitelbaum S, Klahr S, Slatopolsky E |title=Evidence for skeletal resistance to parathyroid hormone in magnesium deficiency. Studies in isolated perfused bone |journal=J. Clin. Invest. |volume=64 |issue=5 |pages=1238–44 |year=1979 |pmid=227929 |pmc=371269 |doi=10.1172/JCI109578 |url=}}</ref>
| style="padding: 5px 5px; background: #F5F5F5;" |
*Decreased [[parathyroid hormone]] (PTH) secretion
*Skeletal resistance to [[parathyroid hormone]] (PTH)
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Inappropriately '''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal/'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | --
| style="padding: 5px 5px; background: #F5F5F5;" |
* '''↓''' [[Magnesium|serum magnesium]]
* '''↓'''/Normal [[Potassium|serum potassium]]
|-
! rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Acrodysostosis]]'''
! style="padding: 5px 5px; background: #DCDCDC;" align="center" | '''Acrodysostosis type 1'''
| style="padding: 5px 5px; background: #F5F5F5;" |
* [[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH)
* ''PRKAR1A'' germ-line [[Mutations|mutation]] in the encoding [[gene]] resulting in [[parathyroid]] resistance
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Multiple hormone resistance 
|-
! style="padding: 5px 5px; background: #DCDCDC;" align="center" | '''Acrodysostosis type 2'''
| style="padding: 5px 5px; background: #F5F5F5;" |
* [[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH)
* [[Phosphodiesterase]] 4D (PDE4D) [[gene mutation]] resulting in [[parathyroid]] resistance
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Multiple hormone resistance 
|-
! colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Blomstrand chondrodysplasia'''
| style="padding: 5px 5px; background: #F5F5F5;" |
* [[Genetic defect]]<nowiki/>causing end organ resistance to the action of [[parathyroid hormone]] (PTH)
* [[Homozygous]] or [[heterozygous]] [[mutations]] in both [[alleles]] encoding the [[Parathyroid hormone receptor 1|type 1 parathyroid hormone receptor]] resulting in [[parathyroid]] resistance
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓''' Urinary [[Phosphate]], '''↑''' Urinary [[cAMP]]
|-
! rowspan="5" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Hyperparathyroidism]]'''
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Primary hyperparathyroidism]]'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*Increase in secretion of [[parathyroid hormone]] (PTH) from a primary process in [[parathyroid gland]].  
*[[Parathyroid hormone]] causes increase in [[Calcium|serum calcium]].
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↓/Normal
| style="padding: 5px 5px; background: #F5F5F5;" |Normal/↑ [[calcitriol]]
|-
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Secondary hyperparathyroidism]]'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*Increase in secretion of [[parathyroid hormone]] (PTH) from a secondary process.
*[[Parathyroid hormone]] causes increase in [[Calcium|serum calcium]] after long periods.
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↓/Normal
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" | --
|-
! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Hyperparathyroidism|Tertiary hyperparathyroidism]]'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*Continuous elevation of [[Parathyroid hormone|parathyroid hormone(PTH)]] even after successful treatment of the secondary cause of elevated [[parathyroid hormone]].  
*[[Parathyroid hormone]] causes increase in [[Calcium|serum calcium]].
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
| style="padding: 5px 5px; background: #F5F5F5;" |
--
|-
|}
</div>


==References==
==References==
Line 25: Line 187:
*Arkless, B. Graham: An unusual case of brachydactyly? Peripheral dysostosis? Pseudopseudohypoparathyroidism? Cone epiphyses? American Journal of Roentgenology, Leesburg, Virginia, 1967, 99: 724-735.
*Arkless, B. Graham: An unusual case of brachydactyly? Peripheral dysostosis? Pseudopseudohypoparathyroidism? Cone epiphyses? American Journal of Roentgenology, Leesburg, Virginia, 1967, 99: 724-735.
*P. Maroteaux, G. Malamut: L’acrodysostose. La presse médicale, Paris, 1968, 76: 2189-2192.
*P. Maroteaux, G. Malamut: L’acrodysostose. La presse médicale, Paris, 1968, 76: 2189-2192.
{{Reflist|2}}
[[Category:Musculoskeletal]]


[[fi:Akrodysostoosi]]
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Revision as of 15:49, 24 November 2017

Acrodysostosis syndrome
ICD-10 GroupMajor.minor
ICD-9 xxx
OMIM 101800
DiseasesDB 31405

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Overview

Acrodysostosis also known as Arkless-Graham syndrome or Maroteaux-Malamut syndrome is a rare congenital malformation syndrome which involves shortening of the knuckles of the legs and hands, mental deficiency in approximately 90% of affected children, and peculiar fecies. Other common abnormalities include short head (which is measured front to back i.e. brachycephaly), small broad upturned nose with flat nasal bridge, protruding jaw, Intrauterine growth retardation and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur. Most reported cases have been sporadic, but it has been suggested that the condition might be genetically related i.e. in a autosomal dominant mode of transmission. Both males and females are affected. The disorder has been associated with older parental age.

Differentiating Acrodysostosis From Other Diseases

Differential diagnosis of Pseudohypoparathyroidism
Disorders Mechanism Laboratory findings
Serum PTH Serum Calcium Serum Phosphate Other findings
Pseudohypoparathyroidism [1][2][3] Type 1a ↑ ↓ ↑
Type 1b ↑ ↓ ↑
Type 1c ↑ ↓ ↑
Type 2 ↑ ↓ ↑
Pseudopseudohypoparathyroidism Normal Normal Normal --
Hypoparathyroidism ↓ ↓ ↑
Hypomagnesemia[5][4] Inappropriately ↓ Normal/↓ --
Acrodysostosis Acrodysostosis type 1 ↑ ↓ ↑ Multiple hormone resistance
Acrodysostosis type 2 ↑ ↓ ↑ Multiple hormone resistance
Blomstrand chondrodysplasia ↑ ↓ ↑ ↓ Urinary Phosphate, ↑ Urinary cAMP
Hyperparathyroidism Primary hyperparathyroidism ↑ ↑ ↓/Normal Normal/↑ calcitriol
Secondary hyperparathyroidism ↑ ↓/Normal ↑ --
Tertiary hyperparathyroidism ↑ ↑ ↑

--

References

Further Reading

  • Arkless, B. Graham: An unusual case of brachydactyly? Peripheral dysostosis? Pseudopseudohypoparathyroidism? Cone epiphyses? American Journal of Roentgenology, Leesburg, Virginia, 1967, 99: 724-735.
  • P. Maroteaux, G. Malamut: L’acrodysostose. La presse médicale, Paris, 1968, 76: 2189-2192.
  1. ↑ 1.0 1.1 Levine MA (2012). "An update on the clinical and molecular characteristics of pseudohypoparathyroidism". Curr Opin Endocrinol Diabetes Obes. 19 (6): 443–51. doi:10.1097/MED.0b013e32835a255c. PMC 3679535. PMID 23076042.
  2. ↑ 2.0 2.1 Mantovani G (2011). "Clinical review: Pseudohypoparathyroidism: diagnosis and treatment". J. Clin. Endocrinol. Metab. 96 (10): 3020–30. doi:10.1210/jc.2011-1048. PMID 21816789.
  3. ↑ 3.0 3.1 Lee S, Mannstadt M, Guo J, Kim SM, Yi HS, Khatri A, Dean T, Okazaki M, Gardella TJ, Jüppner H (2015). "A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism". J. Bone Miner. Res. 30 (10): 1803–13. doi:10.1002/jbmr.2532. PMC 4580526. PMID 25891861.
  4. ↑ 4.0 4.1 Freitag JJ, Martin KJ, Conrades MB, Bellorin-Font E, Teitelbaum S, Klahr S, Slatopolsky E (1979). "Evidence for skeletal resistance to parathyroid hormone in magnesium deficiency. Studies in isolated perfused bone". J. Clin. Invest. 64 (5): 1238–44. doi:10.1172/JCI109578. PMC 371269. PMID 227929.
  5. ↑ Jahnen-Dechent W, Ketteler M (2012). "Magnesium basics". Clin Kidney J. 5 (Suppl 1): i3–i14. doi:10.1093/ndtplus/sfr163. PMC 4455825. PMID 26069819.


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